Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
TMEM52	339456	broad.mit.edu	37	1	1849551	1849551	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:1849551C>A	uc001aij.2	-	4	436	c.400G>T	c.(400-402)Ggg>Tgg	p.G134W	TMEM52_uc001aii.2_Missense_Mutation_p.G119W	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	Homo sapiens transmembrane protein 52 (TMEM52), mRNA.	134						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCCAGCTCCCCAAAGGGCAGG	0.637												
ESPN	83715	broad.mit.edu	37	1	6517297	6517297	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:6517297C>T	uc001amy.3	+	10	2547	c.2379C>T	c.(2377-2379)ctC>ctT	p.L793L	ESPN_uc001amz.3_Silent_p.L227L	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	793	Glu-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGCGGGACCTCCTGCGGAAGA	0.642												
PRAMEF6	343068	broad.mit.edu	37	1	13366388	13366388	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:13366388G>C	uc001auu.1	+	2	932	c.832G>C	c.(832-834)Gtt>Ctt	p.V278L		NM_001010889	NP_001013425	Q5VXH4	PRAM6_HUMAN	Homo sapiens PRAME family member 6 (PRAMEF6), mRNA.	278										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TATGAACTCTGTTTCTTTCCT	0.522												
ZNF683	257101	broad.mit.edu	37	1	26691247	26691247	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:26691247C>T	uc001bmg.1	-	3	908	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	ZNF683_uc001bmh.1_Missense_Mutation_p.G264S|ZNF683_uc009vsj.1_Missense_Mutation_p.G264S	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGAGCTTGGCCAGAGGCTTGG	0.647												
KPNA6	23633	broad.mit.edu	37	1	32620313	32620317	+	Frame_Shift_Del	DEL	AGAGC	AGAGC	-			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:32620313_32620317delAGAGC	uc010ogy.2	+	1	171_175	c.144_148delAGAGC	c.(142-150)cgagagcaafs	p.R48fs	KPNA6_uc001bug.3_Frame_Shift_Del_p.R43fs|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Frame_Shift_Del_p.R40fs	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	43	IBB.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGCAGAAGCGAGAGCAACAAGTGAG	0.454												
CSMD2	114784	broad.mit.edu	37	1	34209005	34209005	+	Silent	SNP	G	G	A	rs141295499		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:34209005G>A	uc001bxm.1	-	13	2226	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P	CSMD2_uc001bxn.1_Silent_p.P643P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	643	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCCAGGACGGGCGCCTCGG	0.612												
PTCH2	8643	broad.mit.edu	37	1	45307671	45307671	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:45307671G>C	uc010olf.2	-	1	125	c.113C>G	c.(112-114)gCt>gGt	p.A38G	PTCH2_uc021omv.1_Missense_Mutation_p.A38G|PTCH2_uc010olg.2_5'UTR	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	38					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGGAAGTAAGCACGAAGCCA	0.552									Basal Cell Nevus syndrome			
NBPF10	400818	broad.mit.edu	37	1	144615193	144615193	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:144615193C>T	uc009wig.1	+	1	257	c.63C>T	c.(61-63)aaC>aaT	p.N21N	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_5'UTR|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_5'UTR|NBPF10_uc009wif.1_Non-coding_Transcript|PFN1P2_uc001elf.4_5'Flank	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	21										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAGAAATCAACGAGAAATTGC	0.522												
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:145367767G>A	uc021oul.1	+	82	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3455								p.E3455K(10)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423												
TCHH	7062	broad.mit.edu	37	1	152081057	152081057	+	Missense_Mutation	SNP	C	C	T	rs71585886		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:152081057C>T	uc009wne.1	-	2	4908	c.4636G>A	c.(4636-4638)Ggg>Agg	p.G1546R	TCHH_uc001ezp.2_Missense_Mutation_p.G1546R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1546	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCTGTTGCCCGCGCTCCTGG	0.617												
SLAMF8	56833	broad.mit.edu	37	1	159802791	159802791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:159802791C>T	uc001fue.4	+	2	703	c.493C>T	c.(493-495)Cga>Tga	p.R165*		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	165	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CTATAGCTGGCGACGGGAGAC	0.537												
SOAT1	6646	broad.mit.edu	37	1	179310266	179310266	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:179310266T>G	uc001gml.3	+	6	832	c.601T>G	c.(601-603)Ttt>Gtt	p.F201V	SOAT1_uc010pni.2_Missense_Mutation_p.F136V|SOAT1_uc001gmm.3_Missense_Mutation_p.F143V|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Missense_Mutation_p.F136V	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	201					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	AGTTCCCTATTTTCTGTTTCA	0.448												
HMCN1	83872	broad.mit.edu	37	1	186088926	186088926	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:186088926C>T	uc001grq.1	+	78	12235	c.12006C>T	c.(12004-12006)aaC>aaT	p.N4002N	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4002	Ig-like C2-type 39.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATTCTGAACAATCCTATTT	0.388												
LBR	3930	broad.mit.edu	37	1	225598033	225598033	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:225598033C>T	uc001hoy.3	-	9	1448	c.1274G>A	c.(1273-1275)aGt>aAt	p.S425N	LBR_uc001hoz.3_Missense_Mutation_p.S425N	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	425					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AAGCTGGAAACTATTAACTAA	0.443												
ERCC6	2074	broad.mit.edu	37	10	50667268	50667268	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:50667268T>C	uc001jhs.4	-	20	4229	c.4075A>G	c.(4075-4077)Aaa>Gaa	p.K1359E	ERCC6_uc009xod.3_Missense_Mutation_p.K519E|ERCC6_uc010qgr.2_Missense_Mutation_p.K729E|ERCC6_uc001jhr.4_Missense_Mutation_p.K727E	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1359					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCTCCTTTTTCATGATGCCA	0.443								Direct reversal of damage;Nucleotide excision repair (NER)				
PCDH15	65217	broad.mit.edu	37	10	55582616	55582616	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:55582616G>A	uc010qhy.1	-	34	5286	c.4891C>T	c.(4891-4893)Cca>Tca	p.P1631S	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1626S|PCDH15_uc021pqz.1_Missense_Mutation_p.P1601S|PCDH15_uc010qhv.1_Missense_Mutation_p.P1621S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1584S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1555S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1626S|PCDH15_uc010qia.1_Missense_Mutation_p.P1604S|PCDH15_uc001jju.1_Missense_Mutation_p.P1624S|PCDH15_uc010qib.1_Missense_Mutation_p.P1601S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1624					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A1631V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTAAGCAATGGATTGCTGCTA	0.418										HNSCC(58;0.16)		
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Missense_Mutation	SNP	C	C	G	rs121913292		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:89692904C>G	uc001kfb.3	+	4	1420	c.388C>G	c.(388-390)Cga>Gga	p.R130G	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
HTR7	3363	broad.mit.edu	37	10	92509172	92509172	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:92509172G>A	uc001kha.3	-	1	962	c.719C>T	c.(718-720)aCg>aTg	p.T240M	HTR7_uc001kgz.3_Missense_Mutation_p.T240M|HTR7_uc001khb.3_Missense_Mutation_p.T240M	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	240					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AGAGTAAATCGTATAGCCAAA	0.473												
AFAP1L2	84632	broad.mit.edu	37	10	116060363	116060363	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:116060363G>A	uc001lbn.3	-	13	1930	c.1629C>T	c.(1627-1629)gtC>gtT	p.V543V	AFAP1L2_uc001lbo.3_Silent_p.V543V|AFAP1L2_uc010qse.2_Silent_p.V596V|AFAP1L2_uc001lbp.3_Silent_p.V571V|AFAP1L2_uc001lbr.1_Silent_p.V543V|AFAP1L2_uc001lbm.3_Intron|AFAP1L2_uc010qsd.2_Silent_p.V109V|AFAP1L2_uc001lbq.1_Silent_p.V65V	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	543					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GAAAGGACTTGACAGGTGTGA	0.602												
ATRNL1	26033	broad.mit.edu	37	10	117607492	117607492	+	Silent	SNP	T	T	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:117607492T>G	uc001lcg.3	+	27	4394	c.4008T>G	c.(4006-4008)ccT>ccG	p.P1336P	ATRNL1_uc010qsm.2_Silent_p.P465P|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1336						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCCCTCCCCCTGGGCAGTCAG	0.468												
MKI67	4288	broad.mit.edu	37	10	129913850	129913850	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:129913850T>A	uc001lke.3	-	6	1017	c.822A>T	c.(820-822)aaA>aaT	p.K274N	MKI67_uc001lkf.3_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	274					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGCACTTTCTTTCTCTGTTG	0.443												
CHRNA10	57053	broad.mit.edu	37	11	3687530	3687530	+	Missense_Mutation	SNP	C	C	T	rs148252978		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:3687530C>T	uc001lyf.3	-	4	1232	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	CHRNA10_uc010qxt.2_Missense_Mutation_p.R181Q|CHRNA10_uc010qxu.2_Missense_Mutation_p.R181Q	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	387					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GCACAGACATCGTGGCTCGTG	0.667												
OR5I1	10798	broad.mit.edu	37	11	55703265	55703265	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:55703265G>A	uc010ris.2	-	0	612	c.612C>T	c.(610-612)taC>taT	p.Y204Y		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTGAGCTGCCGTATGTGGAGA	0.403												
TCN1	6947	broad.mit.edu	37	11	59630104	59630104	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:59630104G>T	uc001noj.2	-	2	449	c.351C>A	c.(349-351)caC>caA	p.H117Q		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	117					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCGATCAGGTGGTAATCAT	0.383												
FAT3	120114	broad.mit.edu	37	11	92624150	92624150	+	Silent	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:92624150G>C	uc001pdj.4	+	24	13562	c.13545G>C	c.(13543-13545)tcG>tcC	p.S4515S	FAT3_uc001pdi.4_Silent_p.S987S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4547					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTCATCCTCGGATGTGTCTG	0.557										TCGA Ovarian(4;0.039)		
MMP20	9313	broad.mit.edu	37	11	102477401	102477401	+	Missense_Mutation	SNP	C	C	T	rs141875245	byFrequency	TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:102477401C>T	uc001phc.3	-	5	831	c.818G>A	c.(817-819)cGg>cAg	p.R273Q		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	273					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GAATACTTTCCGAGGTCCTAG	0.522												
ARHGAP32	9743	broad.mit.edu	37	11	128994764	128994764	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:128994764A>G	uc009zcp.3	-	2	251	c.251T>C	c.(250-252)aTt>aCt	p.I84T	ARHGAP32_uc009zcq.2_Missense_Mutation_p.I44T	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	84					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATCTCCAGGAATCTCTGGAAC	0.328												
CACNA1C	775	broad.mit.edu	37	12	2786282	2786282	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:2786282G>T	uc009zdu.1	+	41	5308	c.4995G>T	c.(4993-4995)aaG>aaT	p.K1665N	CACNA1C_uc001qkc.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qjz.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkd.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qke.2_Missense_Mutation_p.K1606N|CACNA1C_uc001qkf.2_Missense_Mutation_p.K1625N|CACNA1C_uc009zdw.1_Missense_Mutation_p.K1658N|CACNA1C_uc001qkg.2_Missense_Mutation_p.K1623N|CACNA1C_uc001qkh.2_Missense_Mutation_p.K1625N|CACNA1C_uc001qkl.2_Missense_Mutation_p.K1665N|CACNA1C_uc001qkj.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkk.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkn.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkm.2_Missense_Mutation_p.K1606N|CACNA1C_uc001qko.2_Missense_Mutation_p.K1637N|CACNA1C_uc001qkp.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkq.2_Missense_Mutation_p.K1645N|CACNA1C_uc001qku.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkr.2_Missense_Mutation_p.K1634N|CACNA1C_uc001qks.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkt.2_Missense_Mutation_p.K1636N|CACNA1C_uc009zdv.1_Missense_Mutation_p.K1614N|CACNA1C_uc001qkb.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qki.1_Missense_Mutation_p.K1353N|CACNA1C_uc010sea.1_Missense_Mutation_p.K308N|AK093746_uc001qkx.1_Non-coding_Transcript|CACNA1C_uc001qky.1_5'Flank	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1665					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCGTTGGCAAGTTCTACGCCA	0.527												
KLRG1	10219	broad.mit.edu	37	12	9144889	9144889	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:9144889delA	uc001qvh.3	+	1	181	c.170delA	c.(169-171)cagfs	p.Q57fs	KLRG1_uc001qvg.3_Frame_Shift_Del_p.Q57fs	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.	57					cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						CTGCTATACCAGTGGATCCTG	0.398												
PZP	5858	broad.mit.edu	37	12	9345129	9345129	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:9345129C>T	uc001qvl.3	-	11	1490	c.1461G>A	c.(1459-1461)tcG>tcA	p.S487S	PZP_uc009zgl.3_Silent_p.S356S	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AACTGAGCTCCGATAACTCTC	0.483												
GUCY2C	2984	broad.mit.edu	37	12	14827688	14827688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:14827688G>A	uc001rcd.3	-	7	1092	c.955C>T	c.(955-957)Cga>Tga	p.R319*	GUCY2C_uc009zhz.2_Nonsense_Mutation_p.R319*	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	319					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GCAAAGTCTCGTTTTGTCTAA	0.363												
ARHGAP9	64333	broad.mit.edu	37	12	57868660	57868660	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:57868660C>T	uc001sod.3	-	15	2112	c.1919G>A	c.(1918-1920)aGa>aAa	p.R640K	ARHGAP9_uc001sny.3_Non-coding_Transcript|ARHGAP9_uc001snz.3_Missense_Mutation_p.R366K|ARHGAP9_uc001soa.3_Missense_Mutation_p.R239K|ARHGAP9_uc001sob.3_Missense_Mutation_p.R550K|ARHGAP9_uc001soc.3_Missense_Mutation_p.R550K|ARHGAP9_uc001soe.1_Missense_Mutation_p.R629K	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	569	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.R569I(1)|p.R639R(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAAATGACCTCTTTTATCCAC	0.527												
EBPL	84650	broad.mit.edu	37	13	50243922	50243922	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr13:50243922C>A	uc001vdg.3	-	1	295	c.232G>T	c.(232-234)Gct>Tct	p.A78S	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_Missense_Mutation_p.A78S	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	78					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		CATAAAGAAGCAATCAAGCCA	0.378											OREG0022412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TINF2	26277	broad.mit.edu	37	14	24709082	24709082	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:24709082C>T	uc001woa.4	-	8	1619	c.1277G>A	c.(1276-1278)tGt>tAt	p.C426Y	TINF2_uc010alm.3_3'UTR|TINF2_uc001wob.4_3'UTR|TINF2_uc010tof.2_Missense_Mutation_p.C391Y|TINF2_uc001woc.4_3'UTR	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	426					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TAGGTATTCACAGAGAGTGGG	0.463									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome			
ZBTB25	7597	broad.mit.edu	37	14	64953897	64953897	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:64953897C>T	uc001xhf.3	-	2	1235	c.1052G>A	c.(1051-1053)tGt>tAt	p.C351Y	ZBTB25_uc001xhc.3_Intron|ZBTB25_uc001xhg.3_Missense_Mutation_p.C351Y	NM_006977	NP_008908	P24278	ZBT25_HUMAN	Homo sapiens zinc finger and BTB domain containing 25 (ZBTB25), mRNA.	351						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		ACAGATGGTACAGCTCATTTT	0.368												
LTBP2	4053	broad.mit.edu	37	14	75017917	75017917	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:75017917C>T	uc001xqa.3	-	6	1923	c.1536G>A	c.(1534-1536)ccG>ccA	p.P512P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	512					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.P512P(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCAGCCAGGGCGGGGGTCTGG	0.701												
SERPINA3	12	broad.mit.edu	37	14	95085658	95085658	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:95085658A>T	uc001ydp.3	+	2	929	c.770A>T	c.(769-771)gAg>gTg	p.E257V	SERPINA3_uc001ydo.4_Missense_Mutation_p.E282V|SERPINA3_uc001ydr.3_Intron|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.E257V|SERPINA3_uc001yds.3_Missense_Mutation_p.E257V	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	257					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.E257K(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TTCCGGGACGAGGAGCTGTCC	0.502												
AHNAK2	113146	broad.mit.edu	37	14	105420083	105420083	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:105420083G>C	uc010axc.1	-	6	1825	c.1705C>G	c.(1705-1707)Cag>Gag	p.Q569E	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.Q469E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	569						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTGTCCTGTTCCTCAGTG	0.542												
ATP8B4	79895	broad.mit.edu	37	15	50226374	50226374	+	Missense_Mutation	SNP	T	T	G	rs114705901	by1000genomes	TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr15:50226374T>G	uc001zxu.3	-	14	1435	c.1293A>C	c.(1291-1293)aaA>aaC	p.K431N	ATP8B4_uc010ber.3_Missense_Mutation_p.K304N|ATP8B4_uc010ufd.2_Missense_Mutation_p.K304N|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	431					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCACAGGCTCTTTTTCCTGTA	0.348												
OR4F6	390648	broad.mit.edu	37	15	102346502	102346502	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr15:102346502A>G	uc010utr.2	+	0	580	c.580A>G	c.(580-582)Aca>Gca	p.T194A		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AGAGACCTACACATTGGGATT	0.368												
CYLD	1540	broad.mit.edu	37	16	50783900	50783900	+	Silent	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr16:50783900A>G	uc021tib.1	+	0	414	c.291A>G	c.(289-291)acA>acG	p.T97T	CYLD_uc002egn.1_Silent_p.T97T|CYLD_uc002ego.3_Silent_p.T97T|CYLD_uc010cbs.1_Silent_p.T97T|CYLD_uc002egp.1_Silent_p.T97T|CYLD_uc002egq.1_Silent_p.T97T|CYLD_uc002egr.1_Silent_p.T97T|CYLD_uc002egs.1_Silent_p.T97T	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	97					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAAAGTTCACAGAGTTACTTT	0.378			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis			
ASIC2	40	broad.mit.edu	37	17	32483431	32483431	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:32483431G>A	uc002hhu.3	-	0	395	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	41					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.R41W(1)								Amiloride(DB00594)	AGCACACGCCGGATGGTCAGC	0.602												
CDK12	51755	broad.mit.edu	37	17	37687203	37687203	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:37687203C>T	uc010cvv.3	+	13	4693	c.4107C>T	c.(4105-4107)acC>acT	p.T1369T	CDK12_uc002hrw.4_Silent_p.T1360T	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1369					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGGTCCAGACCCTGGTGAAGA	0.552			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)		
KRT222	125113	broad.mit.edu	37	17	38812778	38812778	+	Nonsense_Mutation	SNP	A	A	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:38812778A>C	uc002hvc.2	-	5	829	c.764T>G	c.(763-765)tTa>tGa	p.L255*	KRT222_uc002hvb.2_Nonsense_Mutation_p.L215*	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	255						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AGTGGCTGCTAAATGAAGATC	0.378												
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:39274206C>T	uc002hvz.3	-	0	401	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(10)|p.R121R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652												
BRCA1	672	broad.mit.edu	37	17	41244603	41244603	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:41244603G>A	uc002icq.3	-	9	3177	c.2945C>T	c.(2944-2946)cCa>cTa	p.P982L	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.P911L|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.P935L|BRCA1_uc002ict.3_Missense_Mutation_p.P982L|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.P982L|BRCA1_uc002ide.1_Missense_Mutation_p.P813L|BRCA1_uc010cyy.1_Missense_Mutation_p.P982L|BRCA1_uc010whs.1_Missense_Mutation_p.P982L|BRCA1_uc010cyz.2_Missense_Mutation_p.P935L|BRCA1_uc010cza.2_Missense_Mutation_p.P956L|BRCA1_uc010wht.1_Missense_Mutation_p.P686L	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	982					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGAAAAAGTGGTGGTATACG	0.368			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)		
VEZF1	7716	broad.mit.edu	37	17	56056604	56056605	+	In_Frame_Ins	INS	-	-	TGC	rs61731354	byFrequency	TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:56056604_56056605insTGC	uc002ivf.1	-	4	1189_1190	c.1046_1047insGCA	c.(1045-1047)caa>caGCAa	p.349_349Q>QQ	VEZF1_uc010dcn.1_In_Frame_Ins_p.199_199Q>QQ	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	349	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						gttgttgttgttgctgctgctg	0.465												
DCAF7	10238	broad.mit.edu	37	17	61657190	61657190	+	Silent	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:61657190C>A	uc002jbc.3	+	3	631	c.414C>A	c.(412-414)acC>acA	p.T138T	DCAF7_uc002jbb.3_Non-coding_Transcript|DCAF7_uc010wpn.2_Intron	NM_005828	NP_005819	P61962	DCAF7_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 7 (DCAF7), mRNA.	138					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						TTGCAGGTACCTCAAGCATTG	0.562												
KPNA2	3838	broad.mit.edu	37	17	66033587	66033587	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:66033587G>A	uc002jgk.3	+	2	321	c.189G>A	c.(187-189)ccG>ccA	p.P63P	KPNA2_uc002jgl.3_Silent_p.P63P	NM_002266	NP_002257	P52292	IMA2_HUMAN	Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA.	63					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTACTTCTCCGCTGCAGGAAA	0.398												
MGAT5B	146664	broad.mit.edu	37	17	74900424	74900424	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:74900424G>A	uc002jti.3	+	4	746	c.643G>A	c.(643-645)Gtc>Atc	p.V215I	MGAT5B_uc002jth.3_Missense_Mutation_p.V204I	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	204						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTCAGTGAGGTCGAGTGGTT	0.662												
ENGASE	64772	broad.mit.edu	37	17	77081816	77081816	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:77081816G>A	uc002jwv.3	+	13	1823	c.1815_splice	c.e13+1	p.Q605_splice	ENGASE_uc002jww.3_Splice_Site_p.Q310_splice	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	605						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGAGATCCAGGTGATGCTTC	0.677												
SMCHD1	23347	broad.mit.edu	37	18	2705783	2705783	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:2705783G>T	uc002klm.4	+	13	2123	c.1934G>T	c.(1933-1935)gGa>gTa	p.G645V	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_5'Flank	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	645					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TATGCTACAGGAGGAGAGGTT	0.333												
DSC1	1823	broad.mit.edu	37	18	28710546	28710546	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:28710546C>T	uc002kwn.3	-	15	2878	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E	DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	872					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACTCCAGTCCCTCTTCTTCCT	0.423												
TRAPPC8	22878	broad.mit.edu	37	18	29437807	29437807	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:29437807C>T	uc002kxc.4	-	19	3248	c.2884G>A	c.(2884-2886)Ggt>Agt	p.G962S	TRAPPC8_uc002kxb.4_Missense_Mutation_p.G908S|TRAPPC8_uc002kxd.4_Intron	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	962					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCAGTATTACCACCGAAAGTA	0.408												
DOK6	220164	broad.mit.edu	37	18	67345078	67345078	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:67345078G>A	uc002lkl.3	+	3	595	c.398G>A	c.(397-399)cGg>cAg	p.R133Q		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	133	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GGAGTGCAGCGGGAACAGAAT	0.517												
C3	718	broad.mit.edu	37	19	6677935	6677935	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:6677935G>A	uc002mfm.3	-	40	5012	c.4950C>T	c.(4948-4950)ggC>ggT	p.G1650G		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1650	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.G1650C(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGGTGAAGGCGCCGAGGTCCT	0.562												
ZNF358	140467	broad.mit.edu	37	19	7584719	7584719	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:7584719delC	uc002mgn.2	+	1	761	c.591delC	c.(589-591)cacfs	p.H197fs	ZNF358_uc021unu.1_Frame_Shift_Del_p.H197fs|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	197					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						TGGCTCAGCACCGTGGCATCC	0.711												
MRI1	84245	broad.mit.edu	37	19	13876915	13876915	+	Silent	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:13876915G>C	uc002mxe.3	+	2	585	c.519G>C	c.(517-519)ctG>ctC	p.L173L	MRI1_uc002mxf.3_Intron	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	Homo sapiens methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) (MRI1), transcript variant 1, mRNA.	173					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTGGTGCTCTGGCCACCGCTG	0.602												
ZNF461	92283	broad.mit.edu	37	19	37129609	37129609	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:37129609G>A	uc002oem.3	-	5	1866	c.1638C>T	c.(1636-1638)ggC>ggT	p.G546G	ZNF461_uc002oen.3_Silent_p.G515G|ZNF461_uc010xtj.2_Silent_p.G523G	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	Homo sapiens zinc finger protein 461 (ZNF461), mRNA.	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTGGCTTCTCGCCAGTATGAA	0.388												
CATSPERG	57828	broad.mit.edu	37	19	38861189	38861189	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:38861189C>T	uc002oih.4	+	28	3324	c.3237C>T	c.(3235-3237)ggC>ggT	p.G1079G	CATSPERG_uc002oig.4_Silent_p.G1039G|CATSPERG_uc002oif.4_Silent_p.G719G|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1079					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGTTTGTGGGCCTGGTGATCT	0.522												
ZNF28	7576	broad.mit.edu	37	19	53303202	53303202	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:53303202C>G	uc002qad.3	-	3	2053	c.1896G>C	c.(1894-1896)gaG>gaC	p.E632D	ZNF28_uc002qac.3_Missense_Mutation_p.E578D|ZNF28_uc010eqe.3_Missense_Mutation_p.E578D|ZNF28_uc021uza.1_Missense_Mutation_p.E579D	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGTAAGGTTTCTCTCCAGTAT	0.433												
ZNF28	7576	broad.mit.edu	37	19	53304215	53304215	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:53304215C>T	uc002qad.3	-	3	1040	c.883G>A	c.(883-885)Gca>Aca	p.A295T	ZNF28_uc002qac.3_Missense_Mutation_p.A241T|ZNF28_uc010eqe.3_Missense_Mutation_p.A241T|ZNF28_uc021uza.1_Missense_Mutation_p.A242T	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGTTTGTCTGCAGTATGAAGC	0.388												
ZNF28	7576	broad.mit.edu	37	19	53304299	53304299	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:53304299C>G	uc002qad.3	-	3	956	c.799G>C	c.(799-801)Gat>Cat	p.D267H	ZNF28_uc002qac.3_Missense_Mutation_p.D213H|ZNF28_uc010eqe.3_Missense_Mutation_p.D213H|ZNF28_uc021uza.1_Missense_Mutation_p.D214H	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGTTTCTCATCAATGTGAGAT	0.398												
LILRB3	11025	broad.mit.edu	37	19	54746595	54746595	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:54746595C>T	uc010erh.1	-	0	130	c.6G>A	c.(4-6)acG>acA	p.T2T	LILRB3_uc002qew.2_Intron|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Silent_p.T2T|LILRB3_uc002qeh.1_Silent_p.T2T|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Silent_p.T2T|LILRB3_uc002qek.1_Silent_p.T2T|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Silent_p.T2T|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Silent_p.T2T|LILRB3_uc002qep.1_Silent_p.T2T|LILRB3_uc002qeq.1_Silent_p.T2T|LILRB3_uc010yep.1_Silent_p.T2T|LILRB3_uc010yeq.1_Silent_p.T2T|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Silent_p.T2T|LILRB3_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	2					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGGGCGGGCGTCATGGCGT	0.647												
NLRP7	199713	broad.mit.edu	37	19	55449588	55449588	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:55449588C>T	uc002qih.4	-	4	2029	c.1953G>A	c.(1951-1953)ccG>ccA	p.P651P	NLRP7_uc010esk.3_Silent_p.P651P|NLRP7_uc002qig.4_Intron|NLRP7_uc002qii.4_Silent_p.P651P|NLRP7_uc010esl.3_Silent_p.P679P	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	651			P -> S (in HYDM).				ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGCCCAGTTCGGAATGGTTA	0.488												
PEG3	5178	broad.mit.edu	37	19	57335864	57335864	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:57335864A>T	uc002qnu.2	-	0	511	c.160T>A	c.(160-162)Tat>Aat	p.Y54N	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_5'UTR|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Y54N|PEG3_uc002qnv.2_Missense_Mutation_p.Y54N|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.Y54N	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	54	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AATTCCACATAGATTAGGTTC	0.498												
CRIM1	51232	broad.mit.edu	37	2	36740894	36740894	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:36740894G>A	uc002rpd.3	+	10	2042	c.1976G>A	c.(1975-1977)tGc>tAc	p.C659Y		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	659	VWFC 3.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGACAGTGCTGCCCATCATGT	0.562												
ZNF638	27332	broad.mit.edu	37	2	71592818	71592818	+	Silent	SNP	T	T	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:71592818T>G	uc002shx.3	+	5	2300	c.1977T>G	c.(1975-1977)gcT>gcG	p.A659A	ZNF638_uc010fec.2_Silent_p.A765A|ZNF638_uc010yqw.1_Silent_p.A238A|ZNF638_uc002shw.3_Silent_p.A659A|ZNF638_uc002shz.3_Silent_p.A659A|ZNF638_uc002shy.3_Silent_p.A659A|ZNF638_uc002sia.3_Silent_p.A659A|ZNF638_uc002sib.1_Silent_p.A659A	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	659					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTGATAAAGCTGTTTCTCTCC	0.363												
SLC9A2	6549	broad.mit.edu	37	2	103324656	103324656	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:103324656C>A	uc002tca.3	+	11	2289	c.2147C>A	c.(2146-2148)cCa>cAa	p.P716Q		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	716						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CGCTTCTTGCCAGAACAGTTC	0.527												
UGGT1	56886	broad.mit.edu	37	2	128867271	128867271	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:128867271A>G	uc002tps.3	+	4	650	c.472A>G	c.(472-474)Act>Gct	p.T158A	UGGT1_uc010fme.1_Missense_Mutation_p.T33A|UGGT1_uc002tpr.3_Missense_Mutation_p.T134A	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	158					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGAAAGAAGACTTGTGAATC	0.388												
TTN	7273	broad.mit.edu	37	2	179641950	179641950	+	Silent	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:179641950C>A	uc021vsy.1	-	26	4965	c.4740G>T	c.(4738-4740)acG>acT	p.T1580T	TTN_uc021vsz.1_Silent_p.T1534T|TTN_uc021vta.1_Silent_p.T1534T|TTN_uc021vtb.1_Silent_p.T1534T|TTN_uc002unb.2_Silent_p.T1580T|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1580	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T1580T(3)|p.T1534T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGGTTACCCGTAGCTCTGA	0.373												
PTH2R	5746	broad.mit.edu	37	2	209308179	209308179	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:209308179G>C	uc010zjb.2	+	5	935	c.649G>C	c.(649-651)Gga>Cga	p.G217R	PTH2R_uc002vdb.3_Missense_Mutation_p.G206R	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	206						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGCTCACATAGGAGTAAAGGA	0.413												
TRPM8	79054	broad.mit.edu	37	2	234869493	234869493	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:234869493A>G	uc002vvh.3	+	11	1476	c.1436A>G	c.(1435-1437)gAg>gGg	p.E479G	TRPM8_uc010fyj.3_Missense_Mutation_p.E167G	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	479						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTCTTTCTGGAGAATGGCTTG	0.483												
COL6A3	1293	broad.mit.edu	37	2	238283454	238283454	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:238283454C>T	uc002vwl.2	-	7	3565	c.3280G>A	c.(3280-3282)Gct>Act	p.A1094T	COL6A3_uc002vwo.2_Missense_Mutation_p.A888T|COL6A3_uc010znj.1_Missense_Mutation_p.A487T|COL6A3_uc002vwq.3_Missense_Mutation_p.A888T|COL6A3_uc002vwr.3_Missense_Mutation_p.A687T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1094	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGCGGACAGCGTTGACGACG	0.652												
UMODL1	89766	broad.mit.edu	37	21	43519135	43519135	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr21:43519135T>G	uc002zag.1	+	6	1031	c.1031T>G	c.(1030-1032)gTc>gGc	p.V344G	UMODL1_uc002zad.1_Missense_Mutation_p.V272G|UMODL1_uc002zae.1_Missense_Mutation_p.V272G|UMODL1_uc002zaf.1_Missense_Mutation_p.V344G|UMODL1_uc010gow.1_Missense_Mutation_p.V136G|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.V89G	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	344	Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTTTCCATGTCCGGGTTTAC	0.547												
DGCR2	9993	broad.mit.edu	37	22	19044577	19044577	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr22:19044577G>C	uc002zoq.1	-	5	972	c.724C>G	c.(724-726)Ccc>Gcc	p.P242A	DGCR2_uc021wkx.1_Missense_Mutation_p.P239A|DGCR2_uc021wky.1_Missense_Mutation_p.P201A|DGCR2_uc021wkz.1_Missense_Mutation_p.P18A|DGCR2_uc011agr.1_Missense_Mutation_p.P198A|DGCR2_uc002zor.1_Missense_Mutation_p.P18A	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	242					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CGCAGGGTGGGGAAATGGAAG	0.572												
CACNA1I	8911	broad.mit.edu	37	22	39966921	39966921	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr22:39966921C>T	uc003ayc.3	+	0	164	c.164C>T	c.(163-165)gCg>gTg	p.A55V	CACNA1I_uc003ayd.3_Missense_Mutation_p.A55V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	55					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCAGACCTGGCGCCTATTGCC	0.657												
TGFBR2	7048	broad.mit.edu	37	3	30691812	30691812	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:30691812A>T	uc003ceo.3	+	2	696	c.314A>T	c.(313-315)aAg>aTg	p.K105M	TGFBR2_uc021wut.1_5'UTR|TGFBR2_uc003cen.3_Missense_Mutation_p.K130M	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	105					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CATGACCCCAAGCTCCCCTAC	0.443												
KBTBD5	131377	broad.mit.edu	37	3	42729720	42729720	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:42729720C>T	uc003clv.1	+	1	1339	c.1239C>T	c.(1237-1239)tcC>tcT	p.S413S		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	413										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTCTCAACTCCATCTACGTGG	0.637												
MORC1	27136	broad.mit.edu	37	3	108819325	108819325	+	Silent	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:108819325G>T	uc003dxl.3	-	4	340	c.253C>A	c.(253-255)Cga>Aga	p.R85R	MORC1_uc011bhn.2_Silent_p.R85R	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	85					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTTTGGATCGTCCAAAGTAA	0.408												
RFC4	5984	broad.mit.edu	37	3	186508171	186508173	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:186508171_186508173delCAT	uc003fqz.3	-	8	1047_1049	c.824_826delATG	c.(823-828)gatgga>gga	p.D275del	RFC4_uc011bsc.2_In_Frame_Del_p.D275del	NM_002916	NP_853551	P35249	RFC4_HUMAN	Homo sapiens replication factor C (activator 1) 4, 37kDa (RFC4), transcript variant 1, mRNA.	275					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.D275G(2)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		GCAAATACTCCATCAATTTTCTC	0.424												
FBXL5	26234	broad.mit.edu	37	4	15632339	15632339	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:15632339T>G	uc003goc.2	-	5	967	c.842A>C	c.(841-843)gAa>gCa	p.E281A	FBXL5_uc010idw.2_Missense_Mutation_p.E194A|FBXL5_uc003gob.2_Missense_Mutation_p.E143A|FBXL5_uc010idx.2_Missense_Mutation_p.E280A|FBXL5_uc003god.2_Missense_Mutation_p.E264A|FBXL5_uc010idy.2_Missense_Mutation_p.E281A	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA.	281					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGCACGACTTTCATCTTTCCT	0.343												
CLOCK	9575	broad.mit.edu	37	4	56336906	56336906	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:56336906G>T	uc003haz.1	-	8	1342	c.416C>A	c.(415-417)aCt>aAt	p.T139N	CLOCK_uc003hba.1_Missense_Mutation_p.T139N	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	139	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AAGTAATGAAGTTACACTCTC	0.299												
UGT2B7	7364	broad.mit.edu	37	4	69962642	69962642	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:69962642A>T	uc003heg.4	+	0	450	c.404A>T	c.(403-405)aAa>aTa	p.K135I	UGT2B7_uc010ihq.3_Missense_Mutation_p.K135I	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	135					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAAATAAGAAATTTATGAAA	0.313												
UGT2B4	7363	broad.mit.edu	37	4	70351106	70351106	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:70351106G>T	uc003hek.4	-	4	1177	c.1130C>A	c.(1129-1131)gCc>gAc	p.A377D	UGT2B4_uc011cap.2_Missense_Mutation_p.A241D|UGT2B4_uc003hel.4_Intron	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	377					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GATGCCATTGGCTCCACCATG	0.413												
ANK2	287	broad.mit.edu	37	4	114274747	114274747	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:114274747T>C	uc003ibe.4	+	37	5073	c.4973T>C	c.(4972-4974)gTt>gCt	p.V1658A	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.V1673A	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1625					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGCAGACAGTTCAAGATAAG	0.473												
PCDH10	57575	broad.mit.edu	37	4	134071967	134071968	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:134071967_134071968insC	uc003iha.3	+	0	1498_1499	c.672_673insC	c.(670-675)ctgcccfs	p.L224fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Ins_p.L224fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	224	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		gagcaggCCTGCCCCCCCAGCA	0.668												
CTNND2	1501	broad.mit.edu	37	5	11236806	11236806	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr5:11236806G>A	uc003jfa.1	-	9	1903	c.1758C>T	c.(1756-1758)gcC>gcT	p.A586A	CTNND2_uc010itt.2_Silent_p.A495A|CTNND2_uc011cmy.1_Silent_p.A249A|CTNND2_uc011cmz.1_Silent_p.A153A|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.A153A	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	586					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.A586T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CACTGACCTCGGCTTTAATTT	0.443												
SLIT3	6586	broad.mit.edu	37	5	168098222	168098222	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr5:168098222C>T	uc010jjg.3	-	33	4549	c.4129G>A	c.(4129-4131)Gac>Aac	p.D1377N	SLIT3_uc003mab.3_Missense_Mutation_p.D1370N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1370	EGF-like 8.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGCAGGGGTCCCGGGCCTCC	0.672												
KIF13A	63971	broad.mit.edu	37	6	17826293	17826293	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:17826293A>G	uc003ncg.4	-	14	1755	c.1595T>C	c.(1594-1596)cTa>cCa	p.L532P	KIF13A_uc003ncf.3_Missense_Mutation_p.L532P|KIF13A_uc003nch.4_Missense_Mutation_p.L532P|KIF13A_uc003nci.4_Missense_Mutation_p.L532P|KIF13A_uc003ncj.3_Missense_Mutation_p.L208P	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	532					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATTTCCCCATAGGATTCGGTC	0.398												
OR2B3	442184	broad.mit.edu	37	6	29054831	29054831	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:29054831A>T	uc003nlx.3	-	0	260	c.195T>A	c.(193-195)aaT>aaA	p.N65K		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AGATGGAGAGATTAGTGAGAA	0.398												
BTNL2	56244	broad.mit.edu	37	6	32372722	32372722	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:32372722C>T	uc003obg.1	-	1	421	c.421G>A	c.(421-423)Gta>Ata	p.V141I	BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	141						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCACCTGCTACTTTGAGCAGC	0.448												
CGA	1081	broad.mit.edu	37	6	87796012	87796012	+	Missense_Mutation	SNP	C	C	T	rs145503313		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:87796012C>T	uc003plj.2	-	2	371	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	CGA_uc021zci.1_Missense_Mutation_p.V108I	NM_000735	NP_000726	P01215	GLHA_HUMAN	Homo sapiens glycoprotein hormones, alpha polypeptide (CGA), transcript variant 2, mRNA.	77					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	p.V77I(2)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TCTGAGGTGACGTTCTTTTGG	0.483												
LAMA2	3908	broad.mit.edu	37	6	129813614	129813614	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:129813614C>T	uc021zfb.1	+	57	8335	c.8230C>T	c.(8230-8232)Cca>Tca	p.P2744S	LAMA2_uc003qbn.3_Missense_Mutation_p.P2742S|LAMA2_uc003qbo.3_Missense_Mutation_p.P2738S|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2744					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TACGCCCACCCCAGTTCTGAC	0.443												
PLG	5340	broad.mit.edu	37	6	161127532	161127532	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:161127532A>G	uc003qtm.4	+	1	255	c.143A>G	c.(142-144)gAa>gGa	p.E48G	PLG_uc021zhr.1_Missense_Mutation_p.E48G	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	48	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.E47K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGTATAGAAGAATGTGCAGCA	0.468												
C7orf41	222166	broad.mit.edu	37	7	30174862	30174862	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:30174862C>T	uc011kab.1	+	0	311	c.110C>T	c.(109-111)cCc>cTc	p.P37L	C7orf41_uc003tar.1_Missense_Mutation_p.P37L	NM_152793	NP_690006	Q8N3F0	CG041_HUMAN	Homo sapiens chromosome 7 open reading frame 41 (C7orf41), mRNA.	37										NS(1)|large_intestine(2)	3						TACGCCGACCCCGGCGTCTCC	0.642												
PDE1C	5137	broad.mit.edu	37	7	31855588	31855588	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:31855588C>T	uc003tcm.2	-	14	2224	c.1763G>A	c.(1762-1764)cGt>cAt	p.R588H	PDE1C_uc003tcn.1_Missense_Mutation_p.R588H|PDE1C_uc003tco.2_Missense_Mutation_p.R648H|PDE1C_uc003tcr.3_Missense_Mutation_p.R588H|PDE1C_uc003tcs.3_Missense_Mutation_p.R588H	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	588					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GTTTTTCCCACGAGGGTTGTC	0.468												
C7orf10	79783	broad.mit.edu	37	7	40228112	40228112	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:40228112G>A	uc022acd.1	+	3	290	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	C7orf10_uc003thn.2_Missense_Mutation_p.R89Q|C7orf10_uc003tho.2_Missense_Mutation_p.R89Q	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	89							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GATGATACACGAACTTGGGGG	0.338												
EGFR	1956	broad.mit.edu	37	7	55223624	55223624	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:55223624G>A	uc003tqk.3	+	7	1237	c.991G>A	c.(991-993)Ggg>Agg	p.G331R	EGFR_uc003tqh.3_Missense_Mutation_p.G331R|EGFR_uc003tqi.3_Missense_Mutation_p.G331R|EGFR_uc003tqj.3_Missense_Mutation_p.G331R|EGFR_uc022adm.1_Missense_Mutation_p.G331R|EGFR_uc010kzg.2_Missense_Mutation_p.G286R|EGFR_uc022adn.1_Missense_Mutation_p.G286R|EGFR_uc011kco.2_Missense_Mutation_p.G278R|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	331					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G331G(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAAGTGCGAAGGGCCTTGCCG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
WBSCR17	64409	broad.mit.edu	37	7	71130459	71130459	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:71130459A>T	uc003tvy.3	+	6	1144	c.1144A>T	c.(1144-1146)Aag>Tag	p.K382*	WBSCR17_uc003tvz.3_Nonsense_Mutation_p.K81*	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	382						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CATTGAGCGGAAGAAGAAGCC	0.488												
MLXIPL	51085	broad.mit.edu	37	7	73011056	73011056	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:73011056G>A	uc003tyn.1	-	10	1783	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	MLXIPL_uc003tyj.1_Intron|MLXIPL_uc003tyk.1_Missense_Mutation_p.R579W|MLXIPL_uc003tym.1_Missense_Mutation_p.R579W|MLXIPL_uc003tyl.1_Missense_Mutation_p.R579W|MLXIPL_uc003tyo.1_Intron|MLXIPL_uc003typ.1_Missense_Mutation_p.R485W|MLXIPL_uc003tyq.1_Missense_Mutation_p.R346W	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	579					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGTGGCCGGGGCGGTGTA	0.692												
SEMA3C	10512	broad.mit.edu	37	7	80390932	80390932	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:80390932C>A	uc011kgw.2	-	14	1618	c.1539_splice	c.e14+1	p.K513_splice	SEMA3C_uc003uhj.3_Splice_Site_p.K495_splice	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	495					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TAGTTTTTACCTTTTTAGATG	0.229												
PCLO	27445	broad.mit.edu	37	7	82581469	82581469	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:82581469C>T	uc003uhx.2	-	4	9089	c.8800G>A	c.(8800-8802)Gca>Aca	p.A2934T	PCLO_uc003uhv.2_Missense_Mutation_p.A2934T|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2865					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCTCCCTGCGGTTAAATCA	0.433												
SAMD9L	219285	broad.mit.edu	37	7	92761300	92761300	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:92761300T>C	uc003umh.1	-	4	5201	c.3985A>G	c.(3985-3987)Agg>Ggg	p.R1329G	SAMD9L_uc003umj.1_Missense_Mutation_p.R1329G|SAMD9L_uc003umi.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfb.1_Missense_Mutation_p.R1329G|SAMD9L_uc003umk.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfc.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfd.1_Missense_Mutation_p.R1329G|SAMD9L_uc022ahh.1_Missense_Mutation_p.R1329G	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1329										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCTTTTTCCTGCAATTCTCC	0.388												
HEPACAM2	253012	broad.mit.edu	37	7	92848596	92848596	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:92848596G>A	uc011khy.2	-	2	340	c.317C>T	c.(316-318)tCt>tTt	p.S106F	HEPACAM2_uc003uml.3_Missense_Mutation_p.S71F|HEPACAM2_uc010lff.3_Missense_Mutation_p.S71F|HEPACAM2_uc003umm.3_Missense_Mutation_p.S83F	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	83						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CTTATTCACAGAGCCCAGTAA	0.478												
NPTX2	4885	broad.mit.edu	37	7	98254367	98254367	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:98254367C>T	uc003upl.2	+	2	954	c.777C>T	c.(775-777)agC>agT	p.S259S		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	259	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGCGGTCCAGCGCCTCACCAG	0.607												
LAMB4	22798	broad.mit.edu	37	7	107720190	107720190	+	Silent	SNP	A	A	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:107720190A>C	uc010ljo.1	-	14	1827	c.1743T>G	c.(1741-1743)gtT>gtG	p.V581V	LAMB4_uc003vey.2_Silent_p.V581V	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	581	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCTCTCCTAAAACAACGTGAA	0.502												
EPHA1	2041	broad.mit.edu	37	7	143095767	143095767	+	Silent	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:143095767G>C	uc003wcz.3	-	5	1350	c.1263C>G	c.(1261-1263)gcC>gcG	p.A421A		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	421	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTCCATTTTGGGCTTCCACAT	0.607												
GIMAP4	55303	broad.mit.edu	37	7	150269791	150269791	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:150269791C>T	uc003whl.3	+	2	715	c.633C>T	c.(631-633)cgC>cgT	p.R211R	GIMAP4_uc011kuu.2_Silent_p.R72R|GIMAP4_uc011kuv.2_Silent_p.R225R	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	211							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATCCAGCGCGTGGTGAGGG	0.542												
KCNU1	157855	broad.mit.edu	37	8	36693858	36693858	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:36693858T>A	uc010lvw.3	+	12	1427	c.1340T>A	c.(1339-1341)aTa>aAa	p.I447K	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	447	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGAATCATCATACAGATACTG	0.358												
TMEM70	54968	broad.mit.edu	37	8	74893724	74893724	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:74893724A>C	uc003yab.3	+	2	791	c.651A>C	c.(649-651)aaA>aaC	p.K217N	TMEM70_uc022awa.1_Non-coding_Transcript|TMEM70_uc003yac.3_3'UTR	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	Homo sapiens transmembrane protein 70 (TMEM70), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	217					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane		p.T216I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CTAAAACAAAATCACTGTTAG	0.343												
KIAA0196	9897	broad.mit.edu	37	8	126056120	126056120	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:126056120C>T	uc003yrt.3	-	22	3126	c.2797G>A	c.(2797-2799)Gcc>Acc	p.A933T	KIAA0196_uc011lir.2_Missense_Mutation_p.A785T	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	933					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTGGCAATGGCGGAAAAATAA	0.353												
GPR20	2843	broad.mit.edu	37	8	142367229	142367229	+	Silent	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:142367229C>A	uc022bby.1	-	0	795	c.795G>T	c.(793-795)gcG>gcT	p.A265A	GPR20_uc003ywf.3_Silent_p.A265A	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	265						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGGGCCACAGCGCCACGGCCA	0.657												
SMARCA2	6595	broad.mit.edu	37	9	2104169	2104169	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:2104169G>A	uc003zhc.3	+	23	3391	c.3292_splice	c.e23+1	p.G1098_splice	SMARCA2_uc003zhd.3_Splice_Site_p.G1098_splice|SMARCA2_uc010mha.3_Splice_Site_p.G1031_splice	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1098	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ACGCCTTGATGGTAAGTGCAT	0.438												
KIAA2026	158358	broad.mit.edu	37	9	5944873	5944874	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:5944873_5944874insT	uc003zjq.4	-	4	2595_2596	c.2379_2380insA	c.(2377-2382)aaatcgfs	p.K793fs	KIAA2026_uc010mht.3_Intron	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	793										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ACACCTACCGATTTTTTTCTAC	0.307												
TRPM3	80036	broad.mit.edu	37	9	73152156	73152156	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:73152156G>T	uc004aid.3	-	24	4081	c.3837C>A	c.(3835-3837)aaC>aaA	p.N1279K	TRPM3_uc004ahu.3_Missense_Mutation_p.N1121K|TRPM3_uc004ahv.3_Missense_Mutation_p.N1081K|TRPM3_uc004ahw.3_Missense_Mutation_p.N1151K|TRPM3_uc004ahx.3_Missense_Mutation_p.N1138K|TRPM3_uc004ahy.3_Missense_Mutation_p.N1141K|TRPM3_uc004ahz.3_Missense_Mutation_p.N1128K|TRPM3_uc004aia.3_Missense_Mutation_p.N1126K|TRPM3_uc004aib.3_Missense_Mutation_p.N1116K|TRPM3_uc004aic.3_Missense_Mutation_p.N1279K	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1304						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGCGGATTTTGTTGGACTCGG	0.627												
TRPM6	140803	broad.mit.edu	37	9	77377948	77377948	+	Silent	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:77377948A>G	uc004ajl.1	-	25	3877	c.3639T>C	c.(3637-3639)gaT>gaC	p.D1213D	TRPM6_uc004ajk.1_Silent_p.D1208D|TRPM6_uc022bib.1_Silent_p.D1208D|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.D169D	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1213					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Q1212*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGGCAGAGAGATCCTGCAGGT	0.463												
PCSK5	5125	broad.mit.edu	37	9	78969093	78969093	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:78969093C>A	uc004akc.2	+	35	5669	c.5131C>A	c.(5131-5133)Ccc>Acc	p.P1711T		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	776					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACCTCTGATCCCCCCAGTGC	0.612												
TTC16	158248	broad.mit.edu	37	9	130489287	130489287	+	Silent	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:130489287G>T	uc004brq.1	+	10	1531	c.1464G>T	c.(1462-1464)tcG>tcT	p.S488S	PTRH1_uc011mah.2_5'Flank|TTC16_uc011mai.1_Silent_p.S475S|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_Silent_p.S84S	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	488							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CGGGCATGTCGGTGGAGGAGG	0.642												
RXRA	6256	broad.mit.edu	37	9	137309139	137309139	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:137309139A>T	uc004cfb.2	+	4	908	c.746A>T	c.(745-747)tAc>tTc	p.Y249F	RXRA_uc004cfc.1_Missense_Mutation_p.Y152F|RXRA_uc004cfd.1_Missense_Mutation_p.Y20F	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	249	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	p.T248T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	ACCGAGACCTACGTGGAGGCA	0.622												
DDX53	168400	broad.mit.edu	37	X	23019452	23019452	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:23019452G>T	uc004daj.3	+	0	1375	c.1278G>T	c.(1276-1278)atG>atT	p.M426I		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	426	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AAGATCCTATGATTGTTTATG	0.373												
PIM2	11040	broad.mit.edu	37	X	48775821	48775821	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:48775821G>A	uc004dls.3	-	1	465	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	55	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						ACCTGGAGTCGATCTGTGAGG	0.652												
CSTF2	1478	broad.mit.edu	37	X	100075410	100075410	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:100075410C>T	uc004egh.3	+	0	63	c.5C>T	c.(4-6)gCg>gTg	p.A2V	CSTF2_uc010nnd.3_Missense_Mutation_p.A2V|CSTF2_uc004egi.3_Missense_Mutation_p.A2V	NM_001325	NP_001316	P33240	CSTF2_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.	2					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AGAGCTATGGCGGGTTTGACT	0.597												
BCORL1	63035	broad.mit.edu	37	X	129155121	129155121	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:129155121G>A	uc022cdu.1	+	3	3647	c.3603G>A	c.(3601-3603)gaG>gaA	p.E1201E	BCORL1_uc010nrd.1_Silent_p.E1103E	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1201					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACAGCCACGAGGAAGGTAGGC	0.637												
SLC25A14	9016	broad.mit.edu	37	X	129506901	129506901	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:129506901C>A	uc004evr.1	+	10	1211	c.1039C>A	c.(1039-1041)Cag>Aag	p.Q347K	SLC25A14_uc004evp.1_Missense_Mutation_p.Q319K|SLC25A14_uc004evq.1_Missense_Mutation_p.Q316K	NM_022810	NP_073721	O95258	UCP5_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.	319					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TACATACGAGCAGCTAAAGAG	0.398												
FRMD7	90167	broad.mit.edu	37	X	131214270	131214270	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:131214270C>A	uc004ewn.3	-	9	1108	c.930G>T	c.(928-930)ttG>ttT	p.L310F	FRMD7_uc022cdy.1_Missense_Mutation_p.L190F|FRMD7_uc011muy.2_Missense_Mutation_p.L295F	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	310					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCCATATTCCAAAAGTTGCC	0.373												
SPANXN3	139067	broad.mit.edu	37	X	142596854	142596854	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:142596854C>T	uc004fbw.3	-	1	304	c.216G>A	c.(214-216)caG>caA	p.Q72Q		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	72										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCTTGGGACTGTTCATTCT	0.388												
UBE2NL	389898	broad.mit.edu	37	X	142967366	142967366	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:142967366G>A	uc004fca.3	+	0	194	c.164G>A	c.(163-165)cGt>cAt	p.R55H		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	55							acid-amino acid ligase activity	p.R55H(2)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTTAAACGTGAACTATTA	0.418												
UBE2NL	389898	broad.mit.edu	37	X	142967428	142967428	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:142967428A>G	uc004fca.3	+	0	256	c.226A>G	c.(226-228)Att>Gtt	p.I76V		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	76							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CATGACCAAAATTTATCATCC	0.408												
IRAK1	3654	broad.mit.edu	37	X	153278845	153278845	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:153278845C>T	uc004fjs.1	-	11	1658	c.1579G>A	c.(1579-1581)Ggg>Agg	p.G527R	IRAK1_uc004fjr.1_Intron|IRAK1_uc004fjt.1_Missense_Mutation_p.G448R	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	527					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGGCACCCCCGCCACCACT	0.667												
F8	2157	broad.mit.edu	37	X	154225292	154225292	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:154225292A>T	uc004fmt.3	-	2	515	c.344T>A	c.(343-345)gTc>gAc	p.V115D	F8_uc011mzx.1_Missense_Mutation_p.V80D	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	115	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATGAAGACTGACAGGATGGGA	0.448												
